DisGeNET - a database of gene-disease associations

List of associated variants

Trigonocephaly, C0265535

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			28
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs727503109	KRAS	0.752	0.320	12	25245277	missense variant	T/C	snv			17
rs727504662	KRAS	0.925	0.160	12	25227310	missense variant	T/A	snv			2